Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
CLCNKA	1187	broad.mit.edu	37	1	16358754	16358754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:16358754G>A	uc001axu.2	+	17	1893	c.1813G>A	c.(1813-1815)GCT>ACT	p.A605T	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A605T|CLCNKA_uc010obw.1_Missense_Mutation_p.A562T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	605	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCCTCCAGGCTGAGCCTCC	0.652		NA											17	15					0	0	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686819	27686819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:27686819G>A	uc001bny.1	-	16	2344	c.2095C>T	c.(2095-2097)CGC>TGC	p.R699C	MAP3K6_uc009vsw.1_Missense_Mutation_p.R691C|MAP3K6_uc001bnz.1_Missense_Mutation_p.R222C	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	699	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGCAGGCGTCTGTGAAGA	0.592		NA											9	40					0	0	0	0
ZBTB8OS	339487	broad.mit.edu	37	1	33116074	33116074	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:33116074C>T	uc001bvp.2	-	1	112	c.93G>A	c.(91-93)GCG>GCA	p.A31A	ZBTB8OS_uc001bvo.1_RNA|ZBTB8OS_uc001bvq.2_Silent_p.A19A|RBBP4_uc001bvr.2_5'Flank|RBBP4_uc001bvs.2_5'Flank|RBBP4_uc010ohj.1_5'Flank|RBBP4_uc010ohk.1_5'Flank	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite	19											0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCTTGATCGCCTTCTGTT	0.483		NA											39	74					0	0	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452858	35452858	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:35452858T>C	uc001byh.2	-	16	4053	c.3825A>G	c.(3823-3825)TTA>TTG	p.L1275L	uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Silent_p.L1178L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	1275					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAAGGGTAATAAAAATTTCA	0.368		NA											11	40					0	0	0	0
C1orf175	374977	broad.mit.edu	37	1	55145695	55145695	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:55145695C>T	uc010ooe.1	+	13	2682	c.2358C>T	c.(2356-2358)CTC>CTT	p.L786L	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.L354L|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.L304L|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Silent_p.L786L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	786	Helical; (Potential).					integral to membrane	binding				0						TGGCCCTGCTCATGTGCCCCC	0.647		NA											60	68					0	0	0	0
SLC35D1	23169	broad.mit.edu	37	1	67516168	67516168	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:67516168G>A	uc001ddk.2	-	5	796	c.412C>T	c.(412-414)CTG>TTG	p.L138L	SLC35D1_uc010oph.1_Silent_p.L59L	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-glucuronic	138					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity				0					Lorazepam(DB00186)	AACCTTCTCAGAACTGTAAAC	0.294		NA											10	24					0	0	0	0
ZNF644	84146	broad.mit.edu	37	1	91406595	91406595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:91406595C>T	uc001dnw.2	-	3	458	c.316G>A	c.(316-318)GAA>AAA	p.E106K	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.E106K	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAAGTTTTCACTAGAAACA	0.408		NA											10	45					0	0	0	0
LIX1L	128077	broad.mit.edu	37	1	145477381	145477381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:145477381G>A	uc001enr.2	+	1	297	c.223G>A	c.(223-225)GCA>ACA	p.A75T	NBPF10_uc001emp.3_Intron	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse) like	75										ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCAGCCCGGCAGTGCTGCG	0.562		NA											3	4					0	0	0	0
NUP210L	91181	broad.mit.edu	37	1	154062033	154062033	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:154062033A>C	uc001fdw.2	-	16	2297	c.2225T>G	c.(2224-2226)CTG>CGG	p.L742R	NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.L742R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	742						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTAGGGTTCAGGACACCTGG	0.473		NA											15	78					0	0	0	0
SPTA1	6708	broad.mit.edu	37	1	158595954	158595954	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:158595954G>T	uc001fst.1	-	42	6091	c.5892C>A	c.(5890-5892)CTC>CTA	p.L1964L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1964	Spectrin 19.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCAGAAGAGTGAGGAAGTCAC	0.393		NA											4	27					1.24e-05	2.73e-05	1	0
ZNF648	127665	broad.mit.edu	37	1	182026706	182026706	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:182026706G>A	uc001goz.2	-	2	648	c.440C>T	c.(439-441)GCG>GTG	p.A147V		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATCATCACCCGCAGGTAGTCG	0.562		NA											10	50					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	186057074	186057074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:186057074C>G	uc001grq.1	+	61	9603	c.9374C>G	c.(9373-9375)ACA>AGA	p.T3125R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3125	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTATCTGACACAGGCCAGTAT	0.348		NA											6	52					0	0	0	0
CFHR2	3080	broad.mit.edu	37	1	196928195	196928195	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:196928195T>G	uc001gtq.1	+	5	875	c.798T>G	c.(796-798)AGT>AGG	p.S266R	CFHR2_uc001gtr.1_Missense_Mutation_p.S142R	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	266	Sushi 4.					extracellular region				skin(2)|ovary(1)	3						TATATCCCAGTTGTGAAGAAA	0.303		NA											12	33					0	0	0	0
NAV1	89796	broad.mit.edu	37	1	201759817	201759817	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:201759817C>A	uc001gwu.2	+	13	3591	c.3244C>A	c.(3244-3246)CAA>AAA	p.Q1082K	NAV1_uc001gwv.1_Missense_Mutation_p.Q582K|NAV1_uc001gww.1_Missense_Mutation_p.Q683K|NAV1_uc001gwx.2_Missense_Mutation_p.Q691K|NAV1_uc001gwy.1_Missense_Mutation_p.Q455K	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1082	Potential.				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCTTTTACAGCAAATCCGGAA	0.448		NA											18	89					1.68e-08	3.88e-08	1	0
PPFIA4	8497	broad.mit.edu	37	1	203036878	203036878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:203036878G>A	uc001gyz.2	+	13	2181	c.1588G>A	c.(1588-1590)GAG>AAG	p.E530K	PPFIA4_uc009xaj.2_Missense_Mutation_p.E1161K|PPFIA4_uc010pqf.1_Missense_Mutation_p.E743K|PPFIA4_uc001gza.2_Missense_Mutation_p.E521K|PPFIA4_uc001gzb.1_Missense_Mutation_p.E216K|PPFIA4_uc001gzc.1_Missense_Mutation_p.E72K	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	530	Potential.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						TGACCGGAAGGAGCTGGAGAA	0.582		NA											26	54					0	0	0	0
ZP4	57829	broad.mit.edu	37	1	238048742	238048742	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:238048742G>A	uc001hym.2	-	8	1109	c.1109C>T	c.(1108-1110)ACA>ATA	p.T370I	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	370	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTGCTGGGTGTTGCCCAACA	0.537		NA											17	56					0	0	0	0
ZNF669	79862	broad.mit.edu	37	1	247264162	247264162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:247264162C>G	uc001ice.2	-	4	1082	c.909G>C	c.(907-909)GAG>GAC	p.E303D	ZNF669_uc001icf.2_Missense_Mutation_p.E217D	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CGTAGGGTTTCTCTCCAGTGT	0.383		NA											7	49					0	0	0	0
OR2T3	343173	broad.mit.edu	37	1	248637569	248637569	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:248637569G>A	uc001iel.1	+	1	918	c.918G>A	c.(916-918)CTG>CTA	p.L306L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	306	Cytoplasmic (Potential).			L -> M (in Ref. 3; BAC05839).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGCTCTGAGGAGCATGA	0.478		NA											44	349					0	0	0	0
ZNF692	55657	broad.mit.edu	37	1	249151487	249151487	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:249151487G>C	uc001ifc.1	-	4	588	c.421C>G	c.(421-423)CAT>GAT	p.H141D	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.H141D|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.H141D|ZNF692_uc010pzr.1_Missense_Mutation_p.H146D	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTAGTATGTGGAAGGGAG	0.567		NA											42	53					0	0	0	0
ZNF248	57209	broad.mit.edu	37	10	38120569	38120569	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:38120569T>C	uc001izd.1	-	6	2213	c.1714A>G	c.(1714-1716)AGG>GGG	p.R572G	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R572G	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTTTCACCCTTGTGTGAATT	0.423		NA											10	38					0	0	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088343	43088343	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:43088343T>C	uc001jaf.1	-	5	2170	c.2055A>G	c.(2053-2055)AGA>AGG	p.R685R	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.R573R|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	685	C2H2-type 13.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCGTGTGCTTTCTCTCATGTA	0.403		NA											26	62					0	0	0	0
KIAA0913	23053	broad.mit.edu	37	10	75556724	75556724	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:75556724G>T	uc009xrl.2	+	16	3243	c.3211G>T	c.(3211-3213)GGG>TGG	p.G1071W	KIAA0913_uc001jve.2_Missense_Mutation_p.G1076W|KIAA0913_uc001jvf.2_Missense_Mutation_p.G1071W|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.G506W|KIAA0913_uc010qkr.1_Missense_Mutation_p.G494W|KIAA0913_uc001jvj.2_Missense_Mutation_p.G494W|KIAA0913_uc009xrn.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	1071							zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GAGTGTGGCAGGGGCTGGGCC	0.647		NA											11	37					0.000673444	0.00144126	1	0
SFTPA1	653509	broad.mit.edu	37	10	81373011	81373011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:81373011A>G	uc001kap.2	+	5	480	c.359A>G	c.(358-360)CAG>CGG	p.Q120R	SFTPA1_uc001kaq.2_Missense_Mutation_p.Q120R|SFTPA1_uc009xry.2_Missense_Mutation_p.Q135R|SFTPA1_uc001kar.2_Missense_Mutation_p.Q120R|SFTPA1_uc010qlt.1_Missense_Mutation_p.Q61R|SFTPA1_uc009xrz.2_Missense_Mutation_p.Q50R|SFTPA1_uc009xsa.2_Missense_Mutation_p.Q120R|SFTPA1_uc009xsf.2_5'Flank	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	surfactant protein A1 isoform 1	120					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAAATCCTGCAGACAAGGGGA	0.547		NA											65	104					0	0	0	0
TNKS2	80351	broad.mit.edu	37	10	93582061	93582061	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:93582061T>A	uc001khp.2	+	7	1034	c.737T>A	c.(736-738)GTA>GAA	p.V246E		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	246	ANK 5.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				AGTGATCTGGTACCATTACAC	0.328		NA											46	43					0	0	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799785	119799785	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:119799785A>G	uc001ldj.1	-	2	1085	c.645T>C	c.(643-645)TTT>TTC	p.F215F	RAB11FIP2_uc009xyz.1_Silent_p.F215F	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	215					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCCAAGAGAAAAGGCTTTT	0.433		NA											22	67					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124348656	124348656	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:124348656C>T	uc001lgk.1	+	17	2086	c.1980C>T	c.(1978-1980)GGC>GGT	p.G660G	DMBT1_uc001lgl.1_Silent_p.G650G|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.G660G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	660	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGTCAGGGCTCAGGACCCA	0.602		NA											58	158					0	0	0	0
MUC5B	727897	broad.mit.edu	37	11	1263375	1263375	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:1263375C>T	uc009ycr.1	+	47	7470	c.7344C>T	c.(7342-7344)ACC>ACT	p.T2448T	MUC5B_uc001ltb.2_Silent_p.T1758T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1755	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTGTCCACCTCTCAGGCCG	0.642		NA											9	23					0	0	0	0
SCUBE2	57758	broad.mit.edu	37	11	9080855	9080855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:9080855C>G	uc001mhh.1	-	9	1165	c.1085G>C	c.(1084-1086)TGC>TCC	p.C362S	SCUBE2_uc001mhi.1_Missense_Mutation_p.C362S|SCUBE2_uc001mhj.1_Missense_Mutation_p.C362S	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	362	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATACCTTGGCAAGACTTCTC	0.483		NA											8	38					0	0	0	0
CHST1	8534	broad.mit.edu	37	11	45671418	45671418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:45671418G>C	uc001mys.1	-	4	1727	c.1056C>G	c.(1054-1056)AAC>AAG	p.N352K		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	352	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGCCGCCGAGTTTCGCACGG	0.672		NA											47	42					0	0	0	0
OR8I2	120586	broad.mit.edu	37	11	55861217	55861217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:55861217G>C	uc010rix.1	+	1	434	c.434G>C	c.(433-435)GGA>GCA	p.G145A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AACTGGCTGGGAGTAATGCCA	0.433		NA											45	52					0	0	0	0
EHD1	10938	broad.mit.edu	37	11	64622855	64622855	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:64622855T>C	uc001obu.1	-	4	1274	c.1019A>G	c.(1018-1020)CAG>CGG	p.Q340R	EHD1_uc001obt.1_Missense_Mutation_p.Q23R|EHD1_uc001obv.1_Missense_Mutation_p.Q340R|EHD1_uc010rnq.1_Missense_Mutation_p.Q354R	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	340					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						CTCAATCTTCTGGTAGATCTC	0.557		NA									OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	72					0	0	0	0
SAPS3	55291	broad.mit.edu	37	11	68318642	68318642	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:68318642G>T	uc001onw.2	+	6	873	c.606G>T	c.(604-606)TCG>TCT	p.S202S	SAPS3_uc010rqb.1_Silent_p.S111S|SAPS3_uc001onv.2_Silent_p.S202S|SAPS3_uc001ony.3_Silent_p.S202S|SAPS3_uc001onx.2_Silent_p.S202S|SAPS3_uc009ysh.2_Silent_p.S202S|SAPS3_uc001onu.2_Silent_p.S202S|SAPS3_uc010rqc.1_Intron	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	202					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			TTCATCCATCGCAAGAAGAAG	0.333		NA											15	50					7.93e-07	1.79e-06	1	0
P2RY2	5029	broad.mit.edu	37	11	72945507	72945507	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:72945507C>T	uc001otj.2	+	3	636	c.303C>T	c.(301-303)TTC>TTT	p.F101F	P2RY2_uc001otk.2_Silent_p.F101F|P2RY2_uc001otl.2_Silent_p.F101F	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	101	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	ACTGGCCCTTCAGCACGGTGC	0.597		NA											21	96					0	0	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800310	74800310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:74800310G>A	uc010rro.1	-	1	449	c.449C>T	c.(448-450)GCA>GTA	p.A150V		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGCACTGGCTGCCAAGGTAGC	0.557		NA											47	57					0	0	0	0
GAB2	9846	broad.mit.edu	37	11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	rs145573768		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:77931466C>T	uc001ozh.2	-	9	1786	c.1786G>A	c.(1786-1788)GTT>ATT	p.V596I	GAB2_uc001ozg.2_Missense_Mutation_p.V558I	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	596					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562		NA											10	43					0	0	0	0
TYR	7299	broad.mit.edu	37	11	89018057	89018057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:89018057G>C	uc001pcs.2	+	4	1383	c.1301G>C	c.(1300-1302)AGA>ACA	p.R434T		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	434	Lumenal, melanosome (Potential).		R -> I (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCACTGTACAGAAATGGTGAT	0.403		NA							Oculocutaneous_Albinism				17	44					0	0	0	0
PZP	5858	broad.mit.edu	37	12	9307283	9307283	+	Missense_Mutation	SNP	T	T	A	rs140597579	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:9307283T>A	uc001qvl.2	-	29	3732	c.3703A>T	c.(3703-3705)ACC>TCC	p.T1235S	PZP_uc009zgl.2_Missense_Mutation_p.T1021S	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						GTTGCAGAGGTCAGGTCCCCT	0.557		NA											24	38					0	0	0	0
DHH	50846	broad.mit.edu	37	12	49488008	49488008	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:49488008G>A	uc001rtf.2	-	1	595	c.288C>T	c.(286-288)GAC>GAT	p.D96D		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	96					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			lung(1)|breast(1)	2						TCATCAGGCGGTCGGCTCCAC	0.642		NA											20	40					0	0	0	0
SP7	121340	broad.mit.edu	37	12	53722831	53722831	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:53722831G>T	uc001sct.2	-	2	502	c.395C>A	c.(394-396)ACA>AAA	p.T132K	SP7_uc001scu.2_Missense_Mutation_p.T114K|SP7_uc001scv.2_Missense_Mutation_p.T132K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATAGGGGTGTGTCATGTCCAG	0.602		NA											16	40					2.23e-06	4.99e-06	1	0
MON2	23041	broad.mit.edu	37	12	62954421	62954421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:62954421C>T	uc001sre.2	+	26	3951	c.3560C>T	c.(3559-3561)ACA>ATA	p.T1187I	MON2_uc009zqj.2_Missense_Mutation_p.T1187I|MON2_uc010ssl.1_Missense_Mutation_p.T1115I|MON2_uc010ssm.1_Missense_Mutation_p.T1164I|MON2_uc010ssn.1_Missense_Mutation_p.T1187I|MON2_uc001srf.2_Missense_Mutation_p.T950I|MON2_uc001srg.2_Missense_Mutation_p.T62I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1188					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGCCTGAGACACCACCTGTA	0.443		NA											15	32					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85623415	85623415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:85623415G>T	uc001tac.2	+	25	5054	c.4943G>T	c.(4942-4944)AGA>ATA	p.R1648I		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1648										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ACTAGTTCCAGAAATATGAAA	0.338		NA											9	49					1.59e-06	3.57e-06	1	0
MYBPC1	4604	broad.mit.edu	37	12	102030483	102030483	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:102030483C>T	uc001tii.2	+	8	669	c.567C>T	c.(565-567)GAC>GAT	p.D189D	MYBPC1_uc001tif.1_Silent_p.D202D|MYBPC1_uc001tig.2_Silent_p.D214D|MYBPC1_uc010svq.1_Silent_p.D176D|MYBPC1_uc001tih.2_Silent_p.D214D|MYBPC1_uc001tij.2_Silent_p.D189D|MYBPC1_uc010svr.1_Silent_p.D189D|MYBPC1_uc010svs.1_Silent_p.D189D|MYBPC1_uc010svt.1_Silent_p.D177D|MYBPC1_uc010svu.1_Intron|MYBPC1_uc001tik.2_Silent_p.D163D	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	189					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GAGAACTTGACTTTAGTGGTC	0.428		NA											7	21					0	0	0	0
TMEM116	89894	broad.mit.edu	37	12	112369498	112369498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:112369498C>G	uc001ttc.1	-	13	1321	c.665G>C	c.(664-666)AGA>ACA	p.R222T	TMEM116_uc001ttd.1_Missense_Mutation_p.R314T|TMEM116_uc001tte.1_Missense_Mutation_p.R279T|TMEM116_uc001ttf.1_Missense_Mutation_p.R222T|TMEM116_uc001ttg.1_RNA|TMEM116_uc001tth.1_Missense_Mutation_p.R128T	NM_138341	NP_612350	Q8NCL8	TM116_HUMAN	transmembrane protein 116	222						integral to membrane				ovary(1)	1						GCTATAGAATCTCTTCTGTGA	0.453		NA											22	64					0	0	0	0
KNTC1	9735	broad.mit.edu	37	12	123019279	123019279	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:123019279A>G	uc001ucv.2	+	3	361	c.198A>G	c.(196-198)TCA>TCG	p.S66S	KNTC1_uc010taf.1_Silent_p.S66S	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	66					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCGACCAATCAGTGATATTGC	0.353		NA											3	21					0	0	0	0
GRTP1	79774	broad.mit.edu	37	13	114009696	114009696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr13:114009696G>C	uc001vtn.2	-	3	379	c.282C>G	c.(280-282)TAC>TAG	p.Y94*	GRTP1_uc010tkb.1_Nonsense_Mutation_p.Y16*|GRTP1_uc010tkc.1_Nonsense_Mutation_p.Y94*|GRTP1_uc010agv.1_RNA	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCTGGTGGTAGTAGCCGGGAT	0.672		NA											42	6					0	0	0	0
SCFD1	23256	broad.mit.edu	37	14	31139469	31139469	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:31139469A>G	uc001wqm.1	+	11	887	c.863A>G	c.(862-864)CAT>CGT	p.H288R	SCFD1_uc001wqn.1_Missense_Mutation_p.H221R|SCFD1_uc010tpg.1_Missense_Mutation_p.H229R|SCFD1_uc010tph.1_Missense_Mutation_p.H103R|SCFD1_uc010amf.1_Missense_Mutation_p.H103R|SCFD1_uc010tpi.1_Missense_Mutation_p.H196R|SCFD1_uc010amd.1_Missense_Mutation_p.H120R|SCFD1_uc010ame.1_Missense_Mutation_p.H221R	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	288					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAGGATTTCCATTTAAACAGG	0.338		NA											72	140					0	0	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634091	70634091	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:70634091C>T	uc001xly.2	-	2	1803	c.1049G>A	c.(1048-1050)AGC>AAC	p.S350N	SLC8A3_uc001xlw.2_Missense_Mutation_p.S350N|SLC8A3_uc001xlx.2_Missense_Mutation_p.S350N|SLC8A3_uc001xlz.2_Missense_Mutation_p.S350N|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	350	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493		NA											17	66					0	0	0	0
RIN3	79890	broad.mit.edu	37	14	93118236	93118236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:93118236C>T	uc001yap.2	+	6	994	c.842C>T	c.(841-843)CCA>CTA	p.P281L	RIN3_uc010auk.2_5'UTR|RIN3_uc001yaq.2_Missense_Mutation_p.P206L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	281	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CGccgcccaccaccccctccc	0.308		NA											25	23					0	0	0	0
MGA	23269	broad.mit.edu	37	15	42054540	42054540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42054540G>C	uc010ucy.1	+	22	7905	c.7724G>C	c.(7723-7725)AGA>ACA	p.R2575T	MGA_uc010ucz.1_Missense_Mutation_p.R2366T|MGA_uc010uda.1_Missense_Mutation_p.R1191T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2536						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCTTTCCAGAAAAAAAGAC	0.423		NA											9	62					0	0	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42166142G>T	uc001zos.2	-	25	5019	c.4686C>A	c.(4684-4686)ATC>ATA	p.I1562I		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597	Spectrin 12.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647		NA											22	24					3.62e-10	8.55e-10	1	0
DMXL2	23312	broad.mit.edu	37	15	51773152	51773152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:51773152G>T	uc002abf.2	-	24	6376	c.6151C>A	c.(6151-6153)CTT>ATT	p.L2051I	DMXL2_uc002abd.2_Missense_Mutation_p.L121I|DMXL2_uc010ufy.1_Missense_Mutation_p.L2051I|DMXL2_uc010bfa.2_Missense_Mutation_p.L1415I	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2051						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363		NA											5	108					0.00116845	0.00249268	1	0
TMOD2	29767	broad.mit.edu	37	15	52058689	52058689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52058689A>T	uc002abk.2	+	2	272	c.51A>T	c.(49-51)GAA>GAT	p.E17D	TMOD2_uc002abl.3_Missense_Mutation_p.E17D|TMOD2_uc010bfb.2_Translation_Start_Site	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	neuronal tropomodulin isoform a	17					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(2)	2				all cancers(107;0.00435)		ACATTGATGAAGATGAGCTTC	0.423		NA											20	26					0	0	0	0
MYO5A	4644	broad.mit.edu	37	15	52697571	52697571	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52697571T>A	uc002aby.2	-	9	1210	c.966A>T	c.(964-966)CAA>CAT	p.Q322H	MYO5A_uc002abx.3_Missense_Mutation_p.Q322H|MYO5A_uc010uge.1_Missense_Mutation_p.Q191H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	322	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATTCCCATTTGATGAGATT	0.363		NA											8	21					0	0	0	0
HERC1	8925	broad.mit.edu	37	15	64067261	64067261	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:64067261G>C	uc002amp.2	-	2	710	c.562C>G	c.(562-564)CTT>GTT	p.L188V	HERC1_uc010uil.1_Missense_Mutation_p.L188V|HERC1_uc010bgt.1_Missense_Mutation_p.L188V|HERC1_uc002amq.1_Missense_Mutation_p.L188V	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	188					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCGTTGCAAAGACTGAGACCA	0.418		NA											73	213					0	0	0	0
CRABP1	1381	broad.mit.edu	37	15	78640277	78640277	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:78640277C>T	uc002bdp.2	+	4	477	c.372C>T	c.(370-372)GGC>GGT	p.G124G		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	124					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	AGACGTTTGGCGCCGATGACG	0.478		NA											34	45					0	0	0	0
C15orf42	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90119305C>T	uc002boe.2	+	1	488	c.488C>T	c.(487-489)TCG>TTG	p.S163L		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	163					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTCCGCACTCGCAGAGGGAG	0.682		NA											9	8					0	0	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984777	90984777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90984777G>A	uc002bpl.1	+	8	790	c.689G>A	c.(688-690)CGT>CAT	p.R230H		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	230					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTATTGACCGTAGAATTCCA	0.353		NA											16	45					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3778359	3778359	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:3778359T>A	uc002cvv.2	-	31	6893	c.6689A>T	c.(6688-6690)CAG>CTG	p.Q2230L	CREBBP_uc002cvw.2_Missense_Mutation_p.Q2192L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2230					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTGGAACTGGCCGTGCCC	0.498		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				9	9					0	0	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351103	89351103	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:89351103T>G	uc002fmx.1	-	9	2308	c.1847A>C	c.(1846-1848)GAG>GCG	p.E616A	ANKRD11_uc002fmy.1_Missense_Mutation_p.E616A|ANKRD11_uc002fnc.1_Missense_Mutation_p.E616A|ANKRD11_uc002fnb.1_Missense_Mutation_p.E573A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	616						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCGCCCTCCGCGCTGGA	0.537		NA											10	41					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7577129A>C	uc002gim.2	-	8	1003	c.809T>G	c.(808-810)TTT>TGT	p.F270C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138C|TP53_uc010cng.1_Missense_Mutation_p.F138C|TP53_uc002gii.1_Missense_Mutation_p.F138C|TP53_uc010cnh.1_Missense_Mutation_p.F270C|TP53_uc010cni.1_Missense_Mutation_p.F270C|TP53_uc002gij.2_Missense_Mutation_p.F270C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	270	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	15					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7578217G>A	uc002gim.2	-	6	826	c.632C>T	c.(631-633)ACT>ATT	p.T211I	TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.2_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.1_Missense_Mutation_p.T172I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	211	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T211T(9)|p.T211I(7)|p.0?(7)|p.T211N(4)|p.T211fs*4(3)|p.R209fs*35(2)|p.T211A(2)|p.T211fs*36(2)|p.T211fs*5(2)|p.D208fs*1(1)|p.T211_F212insX(1)|p.R209_R213delRNTFR(1)|p.D207_R213delDDRNTFR(1)|p.T211fs*28(1)|p.T211_S215delTFRHS(1)|p.K164_P219del(1)|p.D207_V216del10(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGTCGAAAAGTGTTTCTGTC	0.532		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	22					0	0	0	0
C17orf68	80169	broad.mit.edu	37	17	8131878	8131878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:8131878G>A	uc002gkq.3	-	22	3516	c.3457C>T	c.(3457-3459)CGT>TGT	p.R1153C	C17orf68_uc010cnv.2_RNA	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	1153					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0						ACAATAGGACGGAGGACAGAG	0.507		NA											57	234					0	0	0	0
TTC19	54902	broad.mit.edu	37	17	15902870	15902870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:15902870C>G	uc002gph.1	+	1	89	c.71C>G	c.(70-72)TCA>TGA	p.S24*	ZSWIM7_uc002gpe.2_Silent_p.L13L|ZSWIM7_uc002gpf.2_Silent_p.L13L|ZSWIM7_uc002gpg.2_RNA|TTC19_uc010cox.1_RNA	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	Error:Variant_position_missing_in_Q6DKK2_after_alignment					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCATCTCGCTCAGGAGCTCCT	0.746		NA											3	12					0	0	0	0
TOP3A	7156	broad.mit.edu	37	17	18178288	18178288	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:18178288G>T	uc002gsx.1	-	19	3063	c.2834C>A	c.(2833-2835)TCT>TAT	p.S945Y	TOP3A_uc010cpz.1_Missense_Mutation_p.S397Y|TOP3A_uc010vxr.1_Missense_Mutation_p.S475Y|TOP3A_uc002gsw.1_Missense_Mutation_p.S397Y|TOP3A_uc010vxs.1_Missense_Mutation_p.S843Y	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	945					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						CGGGGCTCCAGAAGTCCCTGT	0.502		NA											26	56					4.78e-09	1.11e-08	1	0
CACNB1	782	broad.mit.edu	37	17	37343809	37343809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37343809G>T	uc002hrm.1	-	4	490	c.337C>A	c.(337-339)CCG>ACG	p.P113T	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.P113T|CACNB1_uc002hro.2_Missense_Mutation_p.P113T|CACNB1_uc002hrp.1_Missense_Mutation_p.P113T|CACNB1_uc010web.1_Missense_Mutation_p.P66T	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	113	SH3.				axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCTGGAGACGGATTGTAGCCA	0.532		NA											53	71					2.17e-26	5.31e-26	1	0
KRT27	342574	broad.mit.edu	37	17	38933792	38933792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:38933792A>T	uc002hvg.2	-	6	1206	c.1165T>A	c.(1165-1167)TGC>AGC	p.C389S		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	389	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				ATCAGGAGGCAGTAGGTCTCA	0.443		NA											23	105					0	0	0	0
TUBD1	51174	broad.mit.edu	37	17	57951959	57951959	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:57951959C>A	uc002ixw.1	-	6	1153	c.875G>T	c.(874-876)TGG>TTG	p.W292L	TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Missense_Mutation_p.W257L|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Missense_Mutation_p.W292L|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Missense_Mutation_p.W76L|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin	292					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAGGCCAGCCCAAGTAAATGT	0.418		NA											7	244					0.00198382	0.00419222	1	0
ITGB4	3691	broad.mit.edu	37	17	73749930	73749930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:73749930C>T	uc002jpg.2	+	33	4380	c.4193C>T	c.(4192-4194)CCG>CTG	p.P1398L	ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1398	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATCCCGCGCCTGTCG	0.776		NA											7	7					0	0	0	0
ENGASE	64772	broad.mit.edu	37	17	77073809	77073809	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:77073809C>G	uc002jwv.2	+	3	287	c.279C>G	c.(277-279)CTC>CTG	p.L93L	ENGASE_uc002jwu.1_Silent_p.L93L|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	93						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						TGGAGGAGCTCTTGGCGTGGA	0.547		NA											56	65					0	0	0	0
C18orf8	29919	broad.mit.edu	37	18	21111620	21111620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:21111620C>G	uc010xax.1	+	21	2047	c.1926C>G	c.(1924-1926)TTC>TTG	p.F642L	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Nonsense_Mutation_p.S225*|NPC1_uc010dlu.1_Intron|NPC1_uc010xaz.1_3'UTR|NPC1_uc002kum.3_3'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	642										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGCTTTTTTCAAACAGATTT	0.348		NA											24	76					0	0	0	0
HAUS1	115106	broad.mit.edu	37	18	43698200	43698200	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:43698200C>A	uc002lbu.2	+	3	339	c.259C>A	c.(259-261)CTC>ATC	p.L87I	HAUS1_uc002lbv.2_Missense_Mutation_p.L11I	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	coiled-coil domain containing 5	87					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				ovary(1)	1						CCCCGCCAATCTCTCTAGCAC	0.418		NA											17	77					8.34e-07	1.88e-06	1	0
AP3D1	8943	broad.mit.edu	37	19	2110868	2110868	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:2110868C>G	uc002luz.2	-	25	3050	c.2827G>C	c.(2827-2829)GAG>CAG	p.E943Q	AP3D1_uc010dsv.2_Missense_Mutation_p.E33Q|AP3D1_uc002luy.2_Missense_Mutation_p.E902Q|AP3D1_uc002lva.2_Missense_Mutation_p.E1005Q	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	943					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGTCCTCCTGCAGACTG	0.622		NA											5	29					0	0	0	0
DDX39	10212	broad.mit.edu	37	19	14520565	14520565	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:14520565C>G	uc010xnp.1	-	7	898	c.853G>C	c.(853-855)GAG>CAG	p.E285Q	DDX39_uc002myo.2_Missense_Mutation_p.E285Q|DDX39_uc010dzl.2_RNA	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	285	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						TGGTTAAACTCCAGCACATCC	0.562		NA											19	41					0	0	0	0
HSH2D	84941	broad.mit.edu	37	19	16268177	16268177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:16268177C>T	uc002ndp.3	+	8	1163	c.632C>T	c.(631-633)CCC>CTC	p.P211L	HSH2D_uc002ndr.2_Missense_Mutation_p.P154L|HSH2D_uc010ead.2_RNA	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	211						cytoplasm|nucleus					0						AAAATGCTCCCCGAGAGAGGC	0.562		NA											19	34					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	38943488	38943488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:38943488G>A	uc002oit.2	+	13	1404	c.1274G>A	c.(1273-1275)CGG>CAG	p.R425Q	RYR1_uc002oiu.2_Missense_Mutation_p.R425Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	425	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAAGCCACGGGGCTCGGGG	0.662		NA											5	15					0	0	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917263	48917263	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:48917263C>T	uc002pjc.3	+	4	1189	c.1101C>T	c.(1099-1101)ATC>ATT	p.I367I		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	367	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCATGAACATCACGTGGGATA	0.587		NA											8	47					0	0	0	0
ZNF347	84671	broad.mit.edu	37	19	53644215	53644215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:53644215C>A	uc002qbb.1	-	5	1935	c.1866G>T	c.(1864-1866)GAG>GAT	p.E622D	ZNF347_uc010eql.1_Missense_Mutation_p.E623D|ZNF347_uc002qbc.1_Missense_Mutation_p.E623D	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTTTCTCTCCAGTAT	0.368		NA											40	43					2.2e-31	5.41e-31	1	0
ZNF524	147807	broad.mit.edu	37	19	56114117	56114117	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:56114117C>T	uc002qlk.1	+	2	722	c.639C>T	c.(637-639)CTC>CTT	p.L213L	FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	213	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCAACACGCTCCGGCGCCATG	0.711		NA											18	9					0	0	0	0
ZNF530	348327	broad.mit.edu	37	19	58118331	58118331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:58118331C>T	uc002qpk.2	+	3	1658	c.1438C>T	c.(1438-1440)CGA>TGA	p.R480*	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACCTCATTCGACACCAGAC	0.433		NA											29	28					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27804296	27804296	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804296G>A	uc002rkz.3	+	1	4908	c.4857G>A	c.(4855-4857)GAG>GAA	p.E1619E	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTCCCCCCGAGAGGAGCTGTC	0.562		NA											32	71					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27804510	27804510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804510G>T	uc002rkz.3	+	1	5122	c.5071G>T	c.(5071-5073)GAG>TAG	p.E1691*	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1691	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|8.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCTGAGAGAAGACA	0.577		NA											41	140					2.05e-20	4.94e-20	1	0
WDR92	116143	broad.mit.edu	37	2	68365916	68365916	+	Silent	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68365916G>C	uc002see.1	-	5	672	c.591C>G	c.(589-591)CTC>CTG	p.L197L	WDR92_uc002sed.1_RNA|WDR92_uc002sef.1_Silent_p.L197L|WDR92_uc002seg.1_Silent_p.L96L	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	monad	197	WD 3.				apoptosis|histone lysine methylation		methylated histone residue binding				0						CCATATTTCTGAGATCAAATA	0.383		NA											32	114					0	0	0	0
PLEK	5341	broad.mit.edu	37	2	68615548	68615548	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68615548T>G	uc002sen.3	+	6	849	c.687T>G	c.(685-687)AAT>AAG	p.N229K	PLEK_uc010fde.2_Missense_Mutation_p.N229K	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	229					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTGAAGAGAATTCCAGTGATG	0.453		NA											42	42					0	0	0	0
SAP130	79595	broad.mit.edu	37	2	128712891	128712891	+	Silent	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:128712891C>A	uc002tpp.2	-	15	2196	c.2064G>T	c.(2062-2064)GTG>GTT	p.V688V	SAP130_uc002tpn.2_Silent_p.V448V|SAP130_uc002tpo.2_Silent_p.V468V|SAP130_uc010fmd.2_Silent_p.V723V|SAP130_uc002tpq.1_Silent_p.V696V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	688					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCCATAGACACGTGGATTT	0.463		NA											16	52					3.46e-05	7.57e-05	1	0
SPOPL	339745	broad.mit.edu	37	2	139316665	139316665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:139316665G>T	uc002tvh.2	+	6	954	c.554G>T	c.(553-555)CGT>CTT	p.R185L		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	185						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCTGAGTGTCGTCTAGCAGAA	0.368		NA											29	55					1.25e-16	2.99e-16	1	0
FIGN	55137	broad.mit.edu	37	2	164466892	164466892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:164466892C>G	uc002uck.1	-	3	1761	c.1450G>C	c.(1450-1452)GAC>CAC	p.D484H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	484						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						TCATTCCAGTCCACTGGAGGT	0.512		NA											11	89					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:178098960C>G	uc002ulh.3	-	2	640	c.85G>C	c.(85-87)GAT>CAT	p.D29H	NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	29					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			9	36					0	0	0	0
GULP1	51454	broad.mit.edu	37	2	189434754	189434754	+	Splice_Site	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189434754G>T	uc010fru.2	+	9	978	c.517_splice	c.e9-1	p.I173_splice	GULP1_uc002uqd.2_Splice_Site_p.I173_splice|GULP1_uc010zfw.1_Splice_Site_p.I70_splice|GULP1_uc002uqf.2_Splice_Site_p.I173_splice|GULP1_uc002uqg.2_Splice_Site_p.I173_splice|GULP1_uc002uqh.1_5'Flank	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTCTTTTTAGATCCAAGACT	0.279		NA											6	22					3.6e-05	7.85e-05	1	0
COL3A1	1281	broad.mit.edu	37	2	189867029	189867029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189867029G>C	uc002uqj.1	+	35	2514	c.2397G>C	c.(2395-2397)GAG>GAC	p.E799D		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	799	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCAGGGTGAGAGAGGTGAAA	0.438		NA											9	31					0	0	0	0
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:204305768A>G	uc002vad.2	-	14	2370	c.2145T>C	c.(2143-2145)CCT>CCC	p.P715P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	715					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						ggggtggaggagggggagggg	0.488		NA											4	22					0	0	0	0
ATIC	471	broad.mit.edu	37	2	216191665	216191665	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:216191665C>A	uc002vex.3	+	7	826	c.652C>A	c.(652-654)CAG>AAG	p.Q218K	ATIC_uc010zjo.1_Missense_Mutation_p.Q159K|ATIC_uc002vey.3_Missense_Mutation_p.Q217K	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	218					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GACCCCTGCCCAGCTGTACAC	0.483		NA	T	ALK	ALCL								26	79					7.93e-12	1.88e-11	1	0
HSPA12B	116835	broad.mit.edu	37	20	3726199	3726199	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:3726199G>A	uc002wjd.2	+	6	616	c.513G>A	c.(511-513)GAG>GAA	p.E171E	HSPA12B_uc010zqi.1_Silent_p.E171E|HSPA12B_uc002wje.2_Silent_p.E84E|HSPA12B_uc010zqj.1_Silent_p.E5E	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	171							ATP binding				0						CCGCCCTGGAGGTGTTCGCCC	0.637		NA											12	51					0	0	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32217677	32217677	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:32217677C>T	uc002wzg.1	+	9	1749	c.1212C>T	c.(1210-1212)GTC>GTT	p.V404V	CBFA2T2_uc010zug.1_Silent_p.V178V|CBFA2T2_uc002wze.1_Silent_p.V395V|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.V375V|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	404						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CCGAGTTGGTCTCCAGGCAGC	0.507		NA											22	27					0	0	0	0
PTPRT	11122	broad.mit.edu	37	20	40757407	40757407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:40757407G>A	uc002xkg.2	-	19	3018	c.2834C>T	c.(2833-2835)GCC>GTC	p.A945V	PTPRT_uc010ggj.2_Missense_Mutation_p.A964V|PTPRT_uc010ggi.2_Missense_Mutation_p.A148V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	945	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AATGTAGTTGGCATTGATGTA	0.542		NA											6	64					0	0	0	0
MYH9	4627	broad.mit.edu	37	22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr22:36712573C>T	uc003apg.2	-	12	1600	c.1369G>A	c.(1369-1371)GAG>AAG	p.E457K	MYH9_uc003aph.1_Missense_Mutation_p.E321K	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	457	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCAAAGATCTCGAAGCCGGCA	0.572		NA	T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				34	86					0	0	0	0
PTH1R	5745	broad.mit.edu	37	3	46937299	46937299	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:46937299G>T	uc003cqm.2	+	5	456	c.253G>T	c.(253-255)GGG>TGG	p.G85W	PTH1R_uc003cqn.2_Missense_Mutation_p.G85W	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	85	Extracellular (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						TAAGGCATCTGGGAAGCTCTA	0.552		NA							Ollier_disease_/_Maffuci_syndrome		OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					2.18e-05	4.78e-05	1	0
NICN1	84276	broad.mit.edu	37	3	49466588	49466588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:49466588C>T	uc003cwz.1	-	1	170	c.85G>A	c.(85-87)GGC>AGC	p.G29S	NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.G29S	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	nicolin 1	29						microtubule|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGCACGCCAGGCCGGCCT	0.682		NA											10	18					0	0	0	0
C3orf63	23272	broad.mit.edu	37	3	56675420	56675420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:56675420G>C	uc003did.3	-	15	2677	c.2576C>G	c.(2575-2577)TCT>TGT	p.S859C	C3orf63_uc003dic.3_Missense_Mutation_p.S463C|C3orf63_uc003die.3_Missense_Mutation_p.S859C	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	859										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TTCGCTGGTAGAAATAGCAAC	0.403		NA											5	18					0	0	0	0
PARP15	165631	broad.mit.edu	37	3	122340298	122340298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:122340298G>T	uc003efm.2	+	8	1137	c.1071G>T	c.(1069-1071)CAG>CAT	p.Q357H	PARP15_uc003efn.2_Missense_Mutation_p.Q231H|PARP15_uc003efo.1_Missense_Mutation_p.Q104H|PARP15_uc003efp.1_Missense_Mutation_p.Q123H|PARP15_uc011bjt.1_Missense_Mutation_p.Q123H	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	335	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTGCACAGCCTCACAGAG	0.393		NA											38	22					1.85e-21	4.48e-21	1	0
TXNDC6	347736	broad.mit.edu	37	3	138023770	138023770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:138023770G>A	uc003esg.2	-	9	764	c.736C>T	c.(736-738)CGA>TGA	p.R246*	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Nonsense_Mutation_p.R161*|TXNDC6_uc003ese.1_Nonsense_Mutation_p.R185*	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	246	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						ATGACGGTTCGCCAGGTAGTG	0.572		NA											30	170					0	0	0	0
OTOL1	131149	broad.mit.edu	37	3	161221279	161221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:161221279G>A	uc011bpb.1	+	4	983	c.983G>A	c.(982-984)CGG>CAG	p.R328Q		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	otolin-1 precursor	328	Collagen-like 3.					collagen					0						AAGGGCTCTCGGGGCTTTAAA	0.572		NA											4	27					0	0	0	0
PPEF2	5470	broad.mit.edu	37	4	76811247	76811247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:76811247C>T	uc003hix.2	-	5	637	c.280G>A	c.(280-282)GCC>ACC	p.A94T	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.A94T	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	94					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGTCCTGGGCGAATCTGTCC	0.522		NA											35	38					0	0	0	0
PDHA2	5161	broad.mit.edu	37	4	96761704	96761704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:96761704G>C	uc003htr.3	+	1	466	c.403G>C	c.(403-405)GAG>CAG	p.E135Q		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	135					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CATTCTCGCAGAGCTGACGGG	0.512		NA											41	37					0	0	0	0
CCRN4L	25819	broad.mit.edu	37	4	139965958	139965958	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:139965958G>C	uc003ihl.2	+	3	819	c.626G>C	c.(625-627)AGA>ACA	p.R209T		NM_012118	NP_036250	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like	209					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)					CTCCTCAGTAGACTAGGCTAT	0.458		NA											16	77					0	0	0	0
TKTL2	84076	broad.mit.edu	37	4	164394488	164394488	+	Silent	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:164394488T>A	uc003iqp.3	-	1	560	c.399A>T	c.(397-399)GCA>GCT	p.A133A		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	133						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATTCCACATGCAGTACCTA	0.547		NA											20	65					0	0	0	0
TTC33	23548	broad.mit.edu	37	5	40716573	40716573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:40716573G>A	uc003jma.2	-	5	611	c.463C>T	c.(463-465)CAC>TAC	p.H155Y	TTC33_uc011cpm.1_Missense_Mutation_p.H47Y|TTC33_uc010ivg.2_3'UTR	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	155	TPR 3.						binding			ovary(1)	1						GGATAGATGTGAAGGGCTACT	0.373		NA											20	73					0	0	0	0
DHFR	1719	broad.mit.edu	37	5	79929781	79929781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:79929781G>T	uc003kgy.1	-	5	892	c.400C>A	c.(400-402)CTA>ATA	p.L134I	DHFR_uc011ctl.1_Intron|DHFR_uc011ctm.1_Missense_Mutation_p.L82I|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Missense_Mutation_p.L283I	NM_000791	NP_000782	P00374	DYR_HUMAN	dihydrofolate reductase	134	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTCACAAATAGTTTAAGATGG	0.328		NA											13	32					2e-07	4.58e-07	1	0
ACOT12	134526	broad.mit.edu	37	5	80667608	80667608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:80667608G>C	uc003khl.3	-	3	274	c.219C>G	c.(217-219)ATC>ATG	p.I73M	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.I73M	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	73	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTGCTTTGATGGTTATAA	0.363		NA											18	44					0	0	0	0
MGAT4B	11282	broad.mit.edu	37	5	179226007	179226007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:179226007C>T	uc003mks.2	-	11	1633	c.1264G>A	c.(1264-1266)GAG>AAG	p.E422K	MGAT4B_uc003mkp.2_Missense_Mutation_p.E276K|MGAT4B_uc003mkq.2_Missense_Mutation_p.R197Q|MGAT4B_uc003mkr.2_Missense_Mutation_p.E437K|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	422	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGTCCTCGCGCAGGTAG	0.607		NA											54	76					0	0	0	0
FAM136B	387071	broad.mit.edu	37	6	3045941	3045941	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:3045941C>T	uc011dhr.1	+	1	324	c.324C>T	c.(322-324)GAC>GAT	p.D108D		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGCAGCTGGACGGTTGTGTGA	0.483		NA											5	86					0	0	0	0
FAM136B	387071	broad.mit.edu	37	6	3045944	3045944	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:3045944T>C	uc011dhr.1	+	1	327	c.327T>C	c.(325-327)GGT>GGC	p.G109G		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGCTGGACGGTTGTGTGACCA	0.483		NA											5	85					0	0	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217479	26217479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:26217479G>A	uc003nha.1	+	1	332	c.277G>A	c.(277-279)GAG>AAG	p.E93K	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	93					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				CAACGACGAGGAGCTAAATAA	0.592		NA											19	76					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28268867	28268867	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:28268867C>G	uc003nky.2	+	7	1606	c.1236C>G	c.(1234-1236)CTC>CTG	p.L412L	PGBD1_uc003nkz.2_Silent_p.L412L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						TTTTGAATCTCAAGAGCGAAA	0.348		NA											15	67					0	0	0	0
RNF8	9025	broad.mit.edu	37	6	37344797	37344797	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:37344797A>G	uc003onq.3	+	6	1417	c.1224A>G	c.(1222-1224)GAA>GAG	p.E408E	RNF8_uc003onr.3_Silent_p.E408E|RNF8_uc011dtx.1_Silent_p.E340E	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	408	RING-type.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1						TTTGTTCAGAATACTTCATTG	0.284		NA											7	9					0	0	0	0
EPHA7	2045	broad.mit.edu	37	6	94120657	94120657	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:94120657A>T	uc003poe.2	-	3	635	c.394T>A	c.(394-396)TAT>AAT	p.Y132N	EPHA7_uc003pof.2_Missense_Mutation_p.Y132N|EPHA7_uc011eac.1_Missense_Mutation_p.Y132N|EPHA7_uc003pog.3_Missense_Mutation_p.Y132N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	132	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAGTGTCATAGTCTGTTTCA	0.368		NA											33	46					0	0	0	0
C6orf170	221322	broad.mit.edu	37	6	121563420	121563420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:121563420A>T	uc003pyo.1	-	18	2152	c.2084T>A	c.(2083-2085)CTA>CAA	p.L695Q	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.L214Q	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	695					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TTGAAGAAGTAGTAATCCTTT	0.343		NA											16	49					0	0	0	0
LAMA2	3908	broad.mit.edu	37	6	129475657	129475657	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:129475657T>A	uc003qbn.2	+	8	1140	c.1035T>A	c.(1033-1035)AAT>AAA	p.N345K	LAMA2_uc003qbo.2_Missense_Mutation_p.N345K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	345	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.289		NA											14	32					0	0	0	0
HBS1L	10767	broad.mit.edu	37	6	135371740	135371740	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:135371740T>C	uc003qez.2	-	2	296	c.89A>G	c.(88-90)TAT>TGT	p.Y30C	HBS1L_uc011ecy.1_5'UTR|HBS1L_uc011ecz.1_5'UTR|HBS1L_uc011eda.1_Missense_Mutation_p.Y30C|HBS1L_uc003qfa.2_Missense_Mutation_p.Y30C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	30					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CGAAATACAATAATCATCCTC	0.299		NA											10	8					0	0	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666488	160666488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:160666488C>T	uc003qtf.2	-	6	1217	c.1047G>A	c.(1045-1047)ATG>ATA	p.M349I	SLC22A2_uc003qte.1_Missense_Mutation_p.M349I	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	349	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACATCAATATCATAGTATGTT	0.373		NA											7	25					0	0	0	0
MEOX2	4223	broad.mit.edu	37	7	15725704	15725704	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:15725704G>T	uc003stc.2	-	1	605	c.324C>A	c.(322-324)CTC>CTA	p.L108L	MEOX2_uc011jxw.1_Silent_p.L108L	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	108					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCTGGAGGCAGAGGCTGTGCC	0.567		NA											10	3					4.69e-08	1.08e-07	1	0
FKBP14	55033	broad.mit.edu	37	7	30066006	30066006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:30066006C>T	uc003tal.1	-	1	263	c.119G>A	c.(118-120)CGC>CAC	p.R40H	PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank	NM_017946	NP_060416	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14 precursor	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TTTGGTCTTGCGATGGCAGAT	0.468		NA											6	206					0	0	0	0
ELMO1	9844	broad.mit.edu	37	7	36895309	36895309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:36895309C>T	uc003tfk.1	-	22	2338	c.2031G>A	c.(2029-2031)ATG>ATA	p.M677I	ELMO1_uc003tfi.1_Missense_Mutation_p.M197I|ELMO1_uc003tfj.1_Missense_Mutation_p.M197I|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.M581I|ELMO1_uc010kxg.1_Missense_Mutation_p.M677I	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	677					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GGTCGCTCATCATGTCCTTCC	0.542		NA											38	150					0	0	0	0
GCK	2645	broad.mit.edu	37	7	44191894	44191894	+	Silent	SNP	G	G	A	rs149412035	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:44191894G>A	uc003tkl.2	-	3	809	c.339C>T	c.(337-339)GAC>GAT	p.D113D	GCK_uc003tkj.1_Silent_p.D112D|GCK_uc003tkk.1_Silent_p.D114D	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	113					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						CGGTCATGGCGTCCTCGGGGA	0.632		NA											98	84					0	0	0	0
ZNF479	90827	broad.mit.edu	37	7	57188597	57188597	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:57188597A>G	uc010kzo.2	-	5	796	c.525T>C	c.(523-525)GAT>GAC	p.D175D		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			ATCTTGTTTTATCTCTATTGG	0.279		NA											18	40					0	0	0	0
PTPN12	5782	broad.mit.edu	37	7	77256506	77256506	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:77256506A>G	uc003ugh.2	+	13	1601	c.1510A>G	c.(1510-1512)AAC>GAC	p.N504D	PTPN12_uc011kgp.1_Missense_Mutation_p.N385D|PTPN12_uc011kgq.1_Missense_Mutation_p.N374D|PTPN12_uc010lds.2_Missense_Mutation_p.N236D	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	504						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						AACACAATCAAACAAAGTTTC	0.428		NA											8	52					0	0	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963135	88963135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:88963135A>C	uc011khi.1	+	4	1377	c.839A>C	c.(838-840)GAG>GCG	p.E280A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	280						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGGAAAAAGAGGTAAATATC	0.358		NA								HNSCC(36;0.09)			11	39					0	0	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761451	92761451	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:92761451C>T	uc003umh.1	-	5	5050	c.3834G>A	c.(3832-3834)CTG>CTA	p.L1278L	SAMD9L_uc003umj.1_Silent_p.L1278L|SAMD9L_uc003umi.1_Silent_p.L1278L|SAMD9L_uc010lfb.1_Silent_p.L1278L|SAMD9L_uc003umk.1_Silent_p.L1278L|SAMD9L_uc010lfc.1_Silent_p.L1278L|SAMD9L_uc010lfd.1_Silent_p.L1278L|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCATTTTCAGAAGAACCA	0.328		NA											16	61					0	0	0	0
EPHB4	2050	broad.mit.edu	37	7	100420076	100420076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:100420076C>T	uc003uwn.1	-	4	1116	c.625G>A	c.(625-627)GAG>AAG	p.E209K	EPHB4_uc003uwm.1_Missense_Mutation_p.E116K|EPHB4_uc010lhj.1_Missense_Mutation_p.E209K|EPHB4_uc011kkf.1_Missense_Mutation_p.E209K|EPHB4_uc011kkg.1_Missense_Mutation_p.E209K|EPHB4_uc011kkh.1_Missense_Mutation_p.E209K	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	209	Extracellular (Potential).|Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACAGTCTCCGGGAATCGA	0.657		NA											11	31					0	0	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519867	113519867	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:113519867A>G	uc010ljy.1	-	4	1311	c.1280T>C	c.(1279-1281)CTA>CCA	p.L427P		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	427					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TAATTGCACTAGTTCATCACT	0.428		NA											85	62					0	0	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450885	117450885	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:117450885G>A	uc003vjf.2	-	3	440	c.348C>T	c.(346-348)GCC>GCT	p.A116A		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	116										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTGCAGTGGGCCATGACTG	0.507		NA											47	217					0	0	0	0
TG	7038	broad.mit.edu	37	8	133898695	133898695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:133898695G>T	uc003ytw.2	+	9	1119	c.1078G>T	c.(1078-1080)GAA>TAA	p.E360*		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	360					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493		NA											50	98					3.86e-30	9.47e-30	1	0
TIGD5	84948	broad.mit.edu	37	8	144681367	144681367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144681367G>A	uc003yyx.1	+	1	1147	c.1147G>A	c.(1147-1149)GAG>AAG	p.E383K	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	432					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTACAAGCGCGAGCTGCTGCG	0.647		NA											10	28					0	0	0	0
MAPK15	225689	broad.mit.edu	37	8	144801638	144801638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144801638C>T	uc003yzj.2	+	7	748	c.707C>T	c.(706-708)CCG>CTG	p.P236L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCATCCCACCGCCATCTGAG	0.657		NA											26	28					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144942354	144942354	+	Missense_Mutation	SNP	T	T	C	rs113992087		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144942354T>C	uc003zaa.1	-	1	5081	c.5068A>G	c.(5068-5070)ATC>GTC	p.I1690V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1690	Plectin 29.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGATGCCGCCCGTG	0.677		NA											14	114					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	145012852	145012852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145012852C>T	uc003zaf.1	-	2	702	c.532G>A	c.(532-534)GAT>AAT	p.D178N	PLEC_uc003zab.1_Missense_Mutation_p.D41N|PLEC_uc003zac.1_Missense_Mutation_p.D45N|PLEC_uc003zad.2_Missense_Mutation_p.D41N|PLEC_uc003zae.1_Missense_Mutation_p.D9N|PLEC_uc003zag.1_Missense_Mutation_p.D19N|PLEC_uc003zah.2_Missense_Mutation_p.D27N|PLEC_uc003zaj.2_Missense_Mutation_p.D68N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	178	Globular 1.|Actin-binding.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCACACGATCCCGCTCATCT	0.627		NA											20	67					0	0	0	0
CPSF1	29894	broad.mit.edu	37	8	145624248	145624248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145624248C>T	uc003zcj.2	-	17	1634	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	520					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACCTGGGGCCGGATGCTCTT	0.642		NA											97	85					0	0	0	0
DNAJA1	3301	broad.mit.edu	37	9	33034296	33034296	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:33034296G>T	uc003zsd.1	+	6	909	c.726G>T	c.(724-726)GTG>GTT	p.V242V	DNAJA1_uc011lnt.1_Silent_p.V85V|DNAJA1_uc003zse.1_Silent_p.V242V	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	242					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTATCATTGTGTTAGATCAGA	0.368		NA											13	26					5.51e-06	1.22e-05	1	0
PTAR1	375743	broad.mit.edu	37	9	72338400	72338400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:72338400C>G	uc004ahj.3	-	6	811	c.789G>C	c.(787-789)TTG>TTC	p.L263F	PTAR1_uc004ahi.2_Missense_Mutation_p.L184F	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	263					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1						GCTCACTTCTCAAAGGATTTT	0.423		NA											19	53					0	0	0	0
TRPM3	80036	broad.mit.edu	37	9	73167793	73167793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:73167793C>T	uc004aid.2	-	23	3749	c.3505G>A	c.(3505-3507)GAG>AAG	p.E1169K	TRPM3_uc004ahu.2_Missense_Mutation_p.E1011K|TRPM3_uc004ahv.2_Missense_Mutation_p.E971K|TRPM3_uc004ahw.2_Missense_Mutation_p.E1041K|TRPM3_uc004ahx.2_Missense_Mutation_p.E1028K|TRPM3_uc004ahy.2_Missense_Mutation_p.E1031K|TRPM3_uc004ahz.2_Missense_Mutation_p.E1018K|TRPM3_uc004aia.2_Missense_Mutation_p.E1016K|TRPM3_uc004aib.2_Missense_Mutation_p.E1006K|TRPM3_uc004aic.2_Missense_Mutation_p.E1169K	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1194	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGGTCGCTCTCGTGTTTCCTC	0.527		NA											66	170					0	0	0	0
PTCH1	5727	broad.mit.edu	37	9	98239882	98239882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:98239882C>A	uc004avk.3	-	10	1638	c.1450G>T	c.(1450-1452)GGA>TGA	p.G484*	PTCH1_uc010mro.2_Nonsense_Mutation_p.G333*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.G333*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.G333*|PTCH1_uc004avl.3_Nonsense_Mutation_p.G333*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.G418*|PTCH1_uc004avm.3_Nonsense_Mutation_p.G483*|PTCH1_uc010mrs.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	484	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G484R(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCCCAGTCCTGCAGCCACT	0.572		NA							Basal_Cell_Nevus_syndrome				45	10					3.55e-21	8.58e-21	1	0
ALG2	85365	broad.mit.edu	37	9	101980370	101980370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:101980370G>A	uc004azf.2	-	2	1167	c.1097C>T	c.(1096-1098)CCG>CTG	p.P366L	ALG2_uc004azg.2_Missense_Mutation_p.P273L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	366					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGCACCGGGTCAGGCTC	0.502		NA											26	59					0	0	0	0
C9orf4	23732	broad.mit.edu	37	9	111903702	111903702	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:111903702C>T	uc004bdw.1	-	4	783	c.783G>A	c.(781-783)GTG>GTA	p.V261V		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	261	DOMON.					integral to membrane					0						TGGGAACATTCACAGGGCGTT	0.448		NA											61	24					0	0	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536273	130536273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:130536273C>T	uc004bsc.2	-	2	653	c.511G>A	c.(511-513)GAA>AAA	p.E171K	SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.E115K	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	171					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						ACCTACCTTTCTGAGTGCACG	0.448		NA											31	12					0	0	0	0
PPP2R4	5524	broad.mit.edu	37	9	131897100	131897100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:131897100C>T	uc004bxm.1	+	7	859	c.592C>T	c.(592-594)CTC>TTC	p.L198F	PPP2R4_uc004bxl.1_Missense_Mutation_p.L163F|PPP2R4_uc011mbo.1_Missense_Mutation_p.L198F|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.L163F|PPP2R4_uc004bxo.1_Missense_Mutation_p.L121F|PPP2R4_uc011mbp.1_Missense_Mutation_p.L134F|PPP2R4_uc011mbq.1_Missense_Mutation_p.L121F|PPP2R4_uc010mys.1_Missense_Mutation_p.L128F	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	198					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CGCTGCTTTCCTCTGCTGTCT	0.512		NA											55	14					0	0	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762651	48762651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:48762651C>T	uc004dlo.1	-	4	539	c.535G>A	c.(535-537)GTC>ATC	p.V179I	SLC35A2_uc011mml.1_Missense_Mutation_p.V192I|SLC35A2_uc004dlp.1_Missense_Mutation_p.V179I|SLC35A2_uc011mmm.1_Missense_Mutation_p.V207I|SLC35A2_uc011mmn.1_Missense_Mutation_p.V118I|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	179	Helical; (Potential).				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						ACAATGGCGACGCCAGTGAAG	0.657		NA											7	4					0	0	0	0
TAF1	6872	broad.mit.edu	37	X	70618519	70618519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:70618519G>C	uc004dzu.3	+	24	3766	c.3715G>C	c.(3715-3717)GAA>CAA	p.E1239Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1260Q|TAF1_uc004dzv.3_Missense_Mutation_p.E413Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1239	HMG box.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAACCAGGAAAAGGAGAA	0.458		NA											19	2					0	0	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985505	140985505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:140985505G>T	uc011mwp.1	+	8	1819	c.1819G>T	c.(1819-1821)GCT>TCT	p.A607S	MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	607	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTACATGGATGCTTTGAAAGA	0.488		NA											46	15					8.01e-26	1.95e-25	1	0
TFAP2E	339488	broad.mit.edu	37	1	36039988	36039988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:36039988delC	uc010ohy.1	+	2	696	c.488delC	c.(487-489)GCCfs	p.A163fs	PSMB2_uc001bzd.1_3'UTR	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGGCGGCGGCCCCCGGTCTG	0.711		NA											2	4	---	---	---	---	NA	NA	NA	NA
ACP6	51205	broad.mit.edu	37	1	147142082	147142083	+	Frame_Shift_Ins	INS	-	-	C	rs139439515	by1000genomes	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:147142082_147142083insC	uc001epr.2	-	1	552_553	c.88_89insG	c.(88-90)GCCfs	p.A30fs	ACP6_uc009wjj.1_Frame_Shift_Ins_p.A30fs	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	30					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					CTCGGCCAGGGCCACCCGCCGC	0.649		NA											2	4	---	---	---	---	NA	NA	NA	NA
CDK12	51755	broad.mit.edu	37	17	37657685	37657685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37657685delA	uc010cvv.2	+	6	3188	c.2602delA	c.(2602-2604)AATfs	p.N868fs	CDK12_uc010wef.1_Frame_Shift_Del_p.N867fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.N868fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	868	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						CATTTTGCTGAATAACAGGTA	0.333		NA								TCGA Ovarian(9;0.13)			13	29	---	---	---	---	NA	NA	NA	NA
CDH7	1005	broad.mit.edu	37	18	63547973	63547973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:63547973delC	uc002ljz.2	+	12	2526	c.2201delC	c.(2200-2202)GCTfs	p.A734fs	CDH7_uc002lkb.2_Frame_Shift_Del_p.A734fs	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	734	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CAGACATATGCTTTTGAAGGA	0.423		NA											21	102	---	---	---	---	NA	NA	NA	NA
DPP10	57628	broad.mit.edu	37	2	116572538	116572538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:116572538delG	uc002tla.1	+	20	2327	c.1870delG	c.(1870-1872)GTAfs	p.V624fs	DPP10_uc002tlb.1_Frame_Shift_Del_p.V574fs|DPP10_uc002tlc.1_Frame_Shift_Del_p.V620fs|DPP10_uc002tle.2_Frame_Shift_Del_p.V628fs|DPP10_uc002tlf.1_Frame_Shift_Del_p.V617fs	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	624	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						TTCAGTAGAAGTAAAGGACCA	0.358		NA											10	78	---	---	---	---	NA	NA	NA	NA
PSIP1	11168	broad.mit.edu	37	9	15472704	15472705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:15472704_15472705insT	uc003zlv.3	-	10	1232_1233	c.902_903insA	c.(901-903)AATfs	p.N301fs	PSIP1_uc003zlw.3_Frame_Shift_Ins_p.N301fs|PSIP1_uc003zlz.3_Frame_Shift_Ins_p.N301fs|PSIP1_uc003zma.3_Frame_Shift_Ins_p.N292fs|PSIP1_uc003zly.2_Frame_Shift_Ins_p.N301fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	301					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTCAGCATATTCCTTCTGTG	0.361		NA											72	17	---	---	---	---	NA	NA	NA	NA
CDKN2A	1029	broad.mit.edu	37	9	21970919	21970919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:21970919delC	uc003zpk.2	-	2	651	c.439delG	c.(439-441)GCCfs	p.A147fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	147					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.R128fs*12(3)|p.A147A(2)|p.A147T(2)|p.A118fs*10(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTTCCGCGGCATCTATGCGG	0.597		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			29	10	---	---	---	---	NA	NA	NA	NA
